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StoneRounds Disease Atlas SR2309

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SR2309

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Malattia Leventinese (IIJ)

Female

Female

SR2309

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Malattia Leventinese (IIJ)

Female

Female

Visit at age: 32 years

Fundus Photography - Right - 20/15 -1

Exemplar

Visit at age: 33 years

Fundus Photography - Right - 20/15

Exemplar

Fundus Photography - Left - 20/15

Exemplar

Visit at age: 37 years

Fundus Photography - Right - 20/20 sc

Exemplar

Fundus Photography - Left - 20/20 sc

Exemplar

Visit at age: 39 years

Fundus Photography - Right - 20/20 -2 sc

Exemplar

Fundus Photography - Left - 20/25 +1 sc

Exemplar

Fluorescein Angiography - Right - 20/20 -2 sc

Exemplar

Fluorescein Angiography - Left - 20/25 +1 sc

Exemplar

Visit at age: 44 years

Fundus Photography - Right - 20/30 sc

Exemplar

Fundus Photography - Left - 20/25 sc

Exemplar

Visit at age: 46 years

Fundus Photography - Right - 20/40 -2 sc

Exemplar

Fundus Photography - Left - 20/30 -2 sc

Exemplar

Case Level Images

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Malattia Leventinese EFEMP1 Arg345Trp CGG>TGG   AD
Disease:
Malattia Leventinese
Gene:
EFEMP1
Allele 1:
Arg345Trp CGG>TGG
Allele 2:
 
Inheritance:
AD
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